Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the SLC27A4 gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we descr...

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Main Authors:	Sultan Al-Khenaizan, Asma AlSwailem, Mohammed Ali AlBalwi
Format:	Article
Language:	English
Published:	Karger Publishers 2021-09-01
Series:	Case Reports in Dermatology
Subjects:	ichthyosis prematurity syndrome solute carrier family 27 member 4 verruciform hyperkeratotic plaques cobblestone appearance premature birth neonatal asphyxia
Online Access:	https://www.karger.com/Article/FullText/519035

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spelling	doaj-9ff3d4d350394a72882c36d0c69063002021-10-07T13:44:28ZengKarger PublishersCase Reports in Dermatology1662-65672021-09-0113347047310.1159/000519035519035Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable IchthyosisSultan Al-Khenaizan0Asma AlSwailem1https://orcid.org/0000-0001-7106-3744Mohammed Ali AlBalwi2Division of Dermatology, Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi ArabiaDivision of Dermatology, King Saud Medical City, Riyadh, Saudi ArabiaDepartment of Pathology and Laboratory Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Riyadh, Saudi ArabiaIchthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the SLC27A4 gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (c.1 A> G, p.Met1Val) in the SLC27A4 gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.https://www.karger.com/Article/FullText/519035ichthyosis prematurity syndromesolute carrier family 27 member 4verruciform hyperkeratotic plaquescobblestone appearancepremature birthneonatal asphyxia
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Sultan Al-Khenaizan Asma AlSwailem Mohammed Ali AlBalwi
spellingShingle	Sultan Al-Khenaizan Asma AlSwailem Mohammed Ali AlBalwi Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis Case Reports in Dermatology ichthyosis prematurity syndrome solute carrier family 27 member 4 verruciform hyperkeratotic plaques cobblestone appearance premature birth neonatal asphyxia
author_facet	Sultan Al-Khenaizan Asma AlSwailem Mohammed Ali AlBalwi
author_sort	Sultan Al-Khenaizan
title	Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
title_short	Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
title_full	Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
title_fullStr	Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
title_full_unstemmed	Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
title_sort	ichthyosis prematurity syndrome: a rare form but easily recognizable ichthyosis
publisher	Karger Publishers
series	Case Reports in Dermatology
issn	1662-6567
publishDate	2021-09-01
description	Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the SLC27A4 gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (c.1 A> G, p.Met1Val) in the SLC27A4 gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.
topic	ichthyosis prematurity syndrome solute carrier family 27 member 4 verruciform hyperkeratotic plaques cobblestone appearance premature birth neonatal asphyxia
url	https://www.karger.com/Article/FullText/519035
work_keys_str_mv	AT sultanalkhenaizan ichthyosisprematuritysyndromearareformbuteasilyrecognizableichthyosis AT asmaalswailem ichthyosisprematuritysyndromearareformbuteasilyrecognizableichthyosis AT mohammedalialbalwi ichthyosisprematuritysyndromearareformbuteasilyrecognizableichthyosis
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Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

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